[Aglossia adactylia syndrome with anterior maxillo mandibular fusion: a case report]

The hypoglossia-hypodactylia syndrome [Hanhart syndrome] is a congenital birth defect. The major features of this syndrome are a reduction in tongue size, micrognathia, limb anomalies and many occasional other anomalies. The neurosensorial development is preserved: We report a particular case with anterior maxillo-mandibular fusion. The patient, a male neonate, was the third child of a 42 year old woman. There was parental consanguinity but no similar cases in the family. The physical examination at birth revealed an eutrophic newborn with facial dysmorphia, impossibility of opening the mouth, aplasia of the fingers on the level of the metacarpo-phalangeal articulations and apodia. Computed tomography scan noted anterior maxillo mandibular fusion, glossopalatine ankylosis and cleft palate. The chromosomic chart, cardiac echography and transfontanellar ultrasound scan were normal. The Hanhart syndrome is a rare malformatif syndrome, grave because of the limbs reductionnal anomalies and feeding difficulties. The etiopathogeny is unknown; drug-taking during the pregnancy, genetic and vascular theories has been implicated

[Prenatal gastrointestinal bleeding caused by oesophagitis]

Upper gastrointestinal tract bleeding in the neonate is usually related to gastritis and esophagitis. Fewer cases of prenatal gastrointestinal tract bleeding diagnosis are reported, showing that gastric peptic lesions can occur in the prenatal period. We report a case of a prenatal oesophagitis revealed at 35 weeks of gestation by the presence of bloody amniotic fluid that was confirmed by endoscopy at birth

[Fifth day fits about a cases report]

Fifth day fits are rare, their incidence is very variable because of a difficult diagnosis. They were first decrived by Dehan and Navelet using the following criteria: occurrence of electro clinical seizures on the fifth day of life in a term newborn, with no pathological event. Inter-ictal tracing showed 'sharp alternant theta', aetiological investigations are negative and long-term outcome is favourable. Causes of fifth day fits are unknown. Responsibility of disturbances of brain maturation are advanced. We report a case complying with the preceded criteria. This case is a female term newborn who presented repetitive clonic seizure appearing on the fifth day of life and resisted to phenobarbital therapy. The special tracing of encephalography showing "sharp alternant theta" is noted. The aetiological research is negative and the outcome is favourable until the age of 18 months

[Nosocomial infections in a neonatal unit epidemiology and risk factors]

Nosocomial infections [NI] are a major problem for neonates especially premature and low birth weight infants The objective of this study was to identify the risk factors and the bacterial epidemiology for nosocomial infection. This was a retrospective study of confirmed nosocomial infections, recorded from January 2003 to December 2005 at the neonatal unit of Charles Nicolle Hospital-Tunis. During the study period, 37 NI were recorded. The diagnosis was performed at a mean age of 7 days. Intra-uterine growth retardation was recorded in 54%of all cases, 70%of all infected infants were prematures and 75%were low birth weight. An antibiotic treatment before NI was recorded in 70%. Peripheral intravenous line placement, administration of intravenous medications, fluids and umbilical vein catheterization were significantly higher at the infected group [p<10[-3]] The pathogens most frequently isolated were klebsiella pneumoniae [73%] coagulase-negative staphylococci [13%]. The mortality rate was 27%[10/37], Nosocomial infections affect specially premature and low birth weight infants and are associated with a high mortality. klebsiella pneumoniae was the most frequently isolated pathogen

[Campomelic dysplasia a case report]

Campomelic dysplasia is a skeletal disease, first reported by Bound. The clinical feature associates stature deficiency bowing of tibia associated with agenesis of toes. Diagnosis is based on radiological features showing bowed tibia, fibula aplasia with skeletal dysplasia, nanow chest. We report one case confirmed radiologically

[Postnatal corticosteroid and chronic lung disease]

Cortieosteroids can be used postnatally to prevent or treat chronic lung disease. Controversy exists, however, about its effects on long term survival infants. Systematic reviews of randomised controlled trials of postnatal corticosteroids in the Chochrane Library were examined to determine the cost-benefit ratios of treatment. Beneficial effects include earlier extubation, reduced chonic lung disease and avoidance of late steroids. However, there are significant adverse short-term effects such as hyperglycaemia, hypertension, hypertrophic cardiomyopathy, gastrointestinal bleeding and growth failure. More important are long-term adverse effects of cerebral palsy, developmental delay. These adverse effects are more pronounced with early [<96 h] treatment but probably also occur when steroids are given later in the postnatal peroid. Postnatal steroids should be avoided if at all possible. More trials should be undertaken with a long term follow-up

[Aplasia cutis congenita [ACC] about two cases]

Aplasia cutis congenita is a congenital condition in which skin, bone, and dura can be absent with an estimate incidence of 1 in 10,000 births. The lesions may occur on any body surface although localised agenesis of the scalp is the most frequent pattern It occurs as an isolated defect or with other associated anomalies. We report 2 cases of ACC, one isolated and another with associated malformations

[Fetal/Neonatal alloimmune thrombocytopenia [FNAIT], resulting from maternal alloimmunisation-About one case]

Fetal/Neonatal alloimmune thrombocytopenia [FNAIT], resulting from maternal alloimmunisation against fetal platelet antigens, is a serious affection. The frequency has been estimated to be 1 out of 800-1000 live births. We report a new observation of alloimmune neonatal thrombocytopeni due to anti HPA-5b [Bra] antibodies. Case report: A male full term neonate presented at birth with a thrombocytopenia unexplained by usual causes of neonatal thrombocytopenia. Alloimmune neonatal thrombocytopenia was diagnosed by the determination of platelets and neonatal patelets antigens phenotypes HPA-5b [antiBra] antibodies in maternal sera, absent at delivery, were identified four months neonatal later. A favourable evolution was obtained after maternal washed platelet transfusion. Alloimmune thrombocytopenia is a seious affection, which exposs to intracranial haemorrhage. Difficulties in detemining the diagnosis should not delay therapy, depending on exclusion of other causes

[Optic disc drusen in alagille syndrome]

Alagille syndrome [AS] is one of the six forms of familial intrahepatic cholestasis, [AS] signs were neonatal jaundice and paucity of intrahepatic bile ducts. The ophthalmic features distinguish AS from the other forms of familial intrahepatic cholestasis. Posterior embrytoxon is the most common ophthalmic sign associated with this syndrome. We report a case of five months old boy that was suspected to have AS based on the association of jaundice, facial and skeletal abnormalities. Ocular examination revealed slightly elevated optic disc with irregular borders in both eyes. There was evidence of optic disc drusen in ocular B scan ultrasound in both eyes. Ocular ultrasound is a useful tool in the diagnosis of AS particularly in the cases which embrytoxon is absent or difficult to detect [young children]

Evaluation chez le nouveau-ne du risque infectieux au cours de la rupture prematuree des membranes [etude prospective de 100 cas]

To value the infections risk after premature rupture of membrans with newborn we, have prospective essay in our departement about 100 cases as consequence the infections risk was produced between 6 and 20% of cases. The streptococcus is the most powerful germ [95% of cases] others infections risk are not remarquable

Evaluation de la sensibilite de l'echographie obstetricale de routine dans le diagnostic antenatal des anomalies foetales majeures

The target of this study is to evalue the sensibility of the obstetrical echography, in the antenatal diagnosis of major fetal anomalies. We present this retrospective study about 94 new borned with 128 anomalies. The results had showed that the sensibility of echography in the diagnosis of major fetal anomalies is 70%